A light in the darkness: perspectives on new research about mortality and autism

Standing before the audience at the New York State Autism Consortium Meeting for Proposed Tissue Collaboration in March, Judith Omidvaran relayed the events that changed her life nearly four years ago. Judith and her husband were the parents of Sina, a 29 year old young man with high functioning autism and epilepsy. Sina had endured previous seizures, but this one took him from his loving parents forever. Reflecting back on that day, now seared into her memory, Judith recalled making a very important and lasting choice. Sina was gone from their everyday lives but she and her husband could donate his brain tissue. In that moment the grieving parents chose to make a lasting contribution to autism research and provide hope for a greater understanding of the lives and all too often untimely deaths of individuals with ASD.

Sudden, unexplained death related to epilepsy (SUDEP) is a most uncomfortable topic, but also a very important one. A new study led by members of Autism Speaks’ staff and published in the Journal of Child Neurology revealed that individuals with ASD who also have a seizure disorder have a risk of death that is eight times greater those with ASD and no seizure disorder. Seizures are not always evident at the time of diagnosis of ASD, and often begin to manifest in adolescence. The difficulties of living with a chronic developmental disorder would seem to be enough, without the weight of worry that these statistics convey. However, one cannot be forearmed if not forewarned.

The release of these data may have been disturbing to some members of the autism community.

Roger Dunlap III was diagnosed with autism at three, and his parents went through the all preparations of caring for the lifelong needs of a child with special needs. Young Roger’s parents, Roger and Heather, began an organization to support the long term care of Roger and others who shared his challenges when these children would need support after their parents had passed. In a twist of cruel irony, young Roger died unexpectedly in his sleep at 9 years old. He was never diagnosed with epilepsy and the exact cause of death remains unknown. The Dunlaps also made an important choice at a difficult time. Their involvement in the autism community connected them with the Autism Tissue Program and they got a call about donation soon after young Roger’s passing. They have continued their remarkable support for the autism community both through their own organization and Autism Speaks.

At this point, however, our understanding of sudden death in autism and epilepsy is poor. An analysis of data on deaths from the California Department of Developmental Services reveal that the cause of death is unknown in 40% of cases. This particular area is one that the Autism Tissue Program is working to improve through detailed analyses of all donated tissue and also though a survey of ASD families who experienced a sudden death of their loved one with ASD .

Autism Speaks, in partnership with the International League Against Epilepsy (ILAE) and Citizens United for Research in Epilepsy (CURE), hosted a meeting in December 2010. The meeting brought together experts in epilepsy research and autism to discuss areas of greatest need and priority in research. The seven key points they developed include:

1) Identifying infants with seizures at risk for autism and those with autism at risk for epilepsy.

2) Identifying risk factors common to autism and epilepsy.

3) Developing new tools to effectively evaluate data specific to epilepsy and autism.

4) Identify and develop animal models, biomarkers and assessment tools that inform outcome in infants with epilepsy that go on to develop autism and infants with autism that go on to develop epilepsy.

5) Explore the underlying mechanisms of convergence between autism and epilepsy.

7) Develop behavioral and pharmacological treatment models and methods in infants with epilepsy and autism (or with one and at risk for the other).

These aims are indeed important for taking the next research steps, however, the fortitude of parents in a time of crisis may be the greatest contribution toward advancing our understanding of sudden death in epilepsy and autism. If you wish to learn more about the Autism Tissue Program, or want to share a story and participate in a survey about sudden unexpected death of a family member with ASD, please go to their website for more information or email info@autismtissueprogram.org.

Read the press release on the Journal of Child Neurology publication here.

Related

I have a 27 year old son who has taken seizures since age 16. He is on tegretal and is fairly well controlled. Are their any new findings that his neurologist should know about? Is he at any higher risk than a person without autism?
Thank You, Wanda

Tegretal is a commonly used and appropriate medication for controlling seizures. With respect to your concern about increased mortality risk, at higher risk for complications are those individuals with intractable epilepsy, that is, difficult to control seizures. Uncontrolled seizures usually occur in the more developmentally disabled (intellectual disability) individuals in which the brain pathology is greater; this is the group in which, in general, seizures are hardest to treat and as such the group at highest risk for SUDEP and other complications leading to an increased risk for mortality. In those people with epilepsy that is well controlled, such as your son, consideration to taper off medications,depending on the clinical and neurobiological findings, is usually done after the person has been 2 years seizure free. Of course this has to be evaluated individually from a risk-benefit ratio by the treating physician and each situation is unique. Your physician can provide the best clinical advice about your son’t treatment.

My daughter Ashlie is 16 years old. She started having seizures at the age of 8 months. Due to fevers, she also had signs of autism starting at age three. That’s another story. She was having as many as 15 small seizures a day after being taken off kepra due to adverse effects. We went through every medication on the market. Nothing helped. I did some research and found that the can due tests and see if your childs seizures are localized or only starting in one area of the brain they can remove that portion of the brain and stop or at least control the seizures. We chose to go forth with the surgery. The seizures are now controlled with medications. Deffinately not as severe. However, I would not say it is without complications. She had a mild to moderate level of depression prior to surgery after the surgery it increased significantly. Her normal funtioning ability is the same but her level want too is less. However I must way the odds. If I had to do again, I would. That does not go without saying knowing what I know now I would have madefor certain that was under control prior to surgery. May god bless you all in all your endeavors!

These statistics are scary. My son is 9 years old. I saw eye rolling when he was 6 mos. but EEGs couldn’t confirm which left us looking paranoid and over reacting. It was frustrating. We were disagreeing with doctors, teachers and Special Ed providers at the public schools. The EEGs didn’t help us confirm or validate our observations until again at 8 years old we insisted on another EEG which presented some abnormal brain activity. Still the neurologist was skeptical, but subscribed trileptal which made a huge difference in that he was sleeping all through the night and seemed more alert and rested. His pants wetting decreased and eye darting stopped too. But now he is beginning to have periodic involuntary spasms and shaking, that is scaring him. It seems like something is changing. He has always been reactive to bright light and will suddenly shut down and even fall asleep after getting agitated or fatigued by the sun. He played basefull for three years and now doesn’t even want to go outside unless he is at school.

He has a tremendous amount of anxiety: he misreads situations and thinks he is being blamed for something or that he is going to get in trouble about something. Fine motor skills problems – he can’t tie his shoes, he is drawing and writing the same as in Kindergarten, although he has good periods when he can produce better and clearer writing and drawing.

After having his best year last year, his teachers are saying he is a different kid this year. He doesn’t enjoy sports, is tired a lot. falls asleep in class and only wants to play computer games. His teachers are concerned about his change.

Doctors say he may have a thyroid problem due to the trileptal and have given him another medicine to address the fatigue and thyroid issue.

And now these mortality stats!

I wish we could have access to more research and services to explore what may be happening with him.